Canonical Allele Identifier: CA2675353357

Gene: PITX1

Linked Data

• gnomAD v4: 5-135028471-C-CAA

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.135028472_135028473insAA , CM000667.2:g.135028472_135028473insAA	GRCh38
NC_000005.9:g.134364162_134364163insAA , CM000667.1:g.134364162_134364163insAA	GRCh37
NC_000005.8:g.134392061_134392062insAA	NCBI36
NG_012114.1:g.10803_10804insTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265340.12:c.*307_*308insTT MANE Select	ENSP00000265340.6:n.*307_*308insTT
ENST00000265340.11:c.*307_*308insTT	ENSP00000265340.6:n.*307_*308insTT
NM_002653.4:c.*307_*308insTT	NP_002644.4:n.*307_*308insTT
NM_002653.5:c.*307_*308insTT MANE Select	NP_002644.4:n.*307_*308insTT